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1.
Eur J Pediatr ; 183(1): 243-251, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37870612

RESUMEN

This study aimed to estimate the prevalence of metabolically healthy obesity (MHO) according to two different consensus-based criteria and to investigate simple, measurable predictive markers for the diagnosis of MHO. Five hundred and ninety-three obese children and adolescents aged 6-18 years were included in the study. The frequency of MHO was calculated. ROC analysis was used to estimate the predictive value of AST/ALT ratio, waist/hip ratio, MPV, TSH, and Ft4 cut-off value for the diagnosis of MHO. The prevalence of MHO was 21.9% and 10.2% according to 2018 and 2023 consensus-based MHO criteria, respectively. AST/ALT ratio cut-off value for the diagnosis of MHO was calculated as ≥ 1 with 77% sensitivity and 52% specificity using Damanhoury et al.'s criteria (AUC = 0.61, p = 0.02), and 90% sensitivity and 51% specificity using Abiri et al.'s criteria (AUC = 0.70, p = 0.01). Additionally, using binomial regression analysis, only the AST/ALT ratio is independently and significantly associated with the diagnosis of MHO (p = 0.03 for 2018 criteria and p = 0.04 for 2023 criteria). CONCLUSION: The ALT/AST ratio may be a useful indicator of MHO in children and adolescents. WHAT IS KNOWN: • Metabolically healthy obesity refers to people who are obese but do not have any of the standard cardio-metabolic risk factors. • Metabolically healthy obesity is not entirely harmless; the metabolic characteristics of individuals with this phenotype are less favorable than those of healthy lean groups. Moreover, it is not a constant state, and there may be a transition to metabolically unhealthy phenotypes over time. WHAT IS NEW: • The prevalence of MHO is 21.9% and 10.2% according to 2018 and 2023 consensus-based metabolically healthy obesity criteria, respectively. • The ALT/AST ratio may be a useful indicator of metabolically healthy obesity in children and adolescents.


Asunto(s)
Síndrome Metabólico , Obesidad Metabólica Benigna , Obesidad Infantil , Humanos , Niño , Adolescente , Obesidad Metabólica Benigna/diagnóstico , Obesidad Metabólica Benigna/epidemiología , Obesidad Infantil/diagnóstico , Obesidad Infantil/epidemiología , Factores de Riesgo , Curva ROC , Circunferencia de la Cintura , Índice de Masa Corporal , Síndrome Metabólico/diagnóstico , Síndrome Metabólico/epidemiología , Fenotipo
2.
J Pediatr Nurs ; 73: e146-e153, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37573154

RESUMEN

OBJECTIVE: To examine the Turkish validity and reliability of the Problem Areas in Diabetes- Parents of Teens (P-PAID-T) scale and its psychometric properties for determining the parents' diabetes-related distress. METHODS: The study included the parents of 200 adolescents with T1DM for at least a year. P-PAID-T and a demographic data form were used for data collection. Davis technique was used for the content validity of the scale. The scale's reliability was tested using test-retest, and its internal reliability was analyzed with Cronbach's alpha test. Exploratory Factor Analysis (EFA) was used to analyze the factor structure. Confirmatory Factor Analysis (CFA) was used to evaluate the fit of the scale. RESULTS: 69.5% (n = 139) of the participants were mothers. Compared to the fathers, the mothers' mean P-PAID-T score was significantly higher. Parents of sons, who used insulin injections for their children, and had a college degree or higher education level had higher P-PAID-T scores. The test-retest correlation coefficient of the scale was 0.977. The Cronbach α value of the scale was 0.901. The results of confirmatory factor analysis were x2/df = 2.931, GFI = 0.736, CFI = 0.711, NFI = 0.628, NNFI = 0.660, RMSEA = 0.141. CONCLUSION: The Turkish version of P-PAID-T was a valid and reliable screening tool for measuring diabetes stress in parents of adolescents with T1DM. PRACTICE IMPLICATIONS: Nurses could use the Turkish version of P-PAID-T to monitor parental diabetes distress and organize interventions; also Turkish P-PAID-T could facilitate research on diabetes distress for parents of adolescents with T1DM.


Asunto(s)
Diabetes Mellitus Tipo 1 , Niño , Femenino , Humanos , Adolescente , Diabetes Mellitus Tipo 1/diagnóstico , Reproducibilidad de los Resultados , Comparación Transcultural , Encuestas y Cuestionarios , Padres , Psicometría/métodos
3.
Eur J Pediatr ; 180(8): 2619-2627, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34117551

RESUMEN

The total serum 25-hydroxyvitamin D [25(OH)DT] level is lower in obese individuals than in their nonobese peers, despite similar bone turnover markers and bone mineral density. This study aimed to investigate whether the threshold level of 25(OH)D for the diagnosis of vitamin D deficiency (VDD) in obese adolescents was lower than that in controls and to compare 25(OH)DT, free [25(OH)DF] and bioavailable [25(OH)DB] vitamin D with VDBP levels in obese individuals and their controls. A total of 173 adolescents (90 obese individuals and 83 controls) aged 12-18 years were included in the study. The metabolic and anthropometric parameters of the participants were recorded, the 25(OH)DT, 25(OH)DF, and VDBP levels were measured, and the 25(OH)DB levels were calculated. The cutoff values for VDD were estimated according to the level of 25(OH)D below which parathyroid hormone begins to rise. The obese subjects had lower 25(OH)DT (12.1 ± 5.8 vs. 16.4 ± 9.3 ng/mL, p < 0.001), 25(OH)DF (12.6 ± 4.2 vs. 16.7 ± 7.6 pg/mL, p < 0.001), 25(OH)DB [4.8 (2.3) vs. 6.1 (5.2) ng/mL, p = 0.012], and VDBP [112.2 (51.3) vs. 121.9 (95.5) µg/mL, p < 0.001] levels than the controls. The cutoff values for 25(OH)DT and 25(OH)DF levels for VDD were lower in the obese group than in the control group (9.4 vs. 14.1 ng/mL; 12.2 vs. 16.8 pg/mL, respectively).Conclusion: The vitamin D cutoff values for the diagnosis of VDD were different in the obese and control groups. Using the same cutoff value for VDD may cause overtreatment in obese adolescents. What is Known: • Vitamin D deficiency is more prevalent in obese children than nonobese controls, despite the same bone turnover markers and bone mineral density • The cutoff value of vitamin D level for the diagnosis of VDD is based on the PTH elevation What is New: • In obese adolescents, total and free vitamin D cutoff value for the diagnosis of VDD was lower than nonobese peers • Using the same cutoff value for vitamin D deficiency in both obese and nonobese adolescents may cause overtreatment.


Asunto(s)
Deficiencia de Vitamina D , Vitamina D , Adolescente , Niño , Humanos , Obesidad/complicaciones , Obesidad/diagnóstico , Hormona Paratiroidea , Vitamina D/análogos & derivados , Deficiencia de Vitamina D/diagnóstico
4.
Minerva Pediatr ; 72(3): 175-181, 2020 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-28006888

RESUMEN

BACKGROUND: Iron deficiency is common in obese children although the underlying mechanism is unclear. Several studies have investigated the relation between iron deficiency and obesity, but studies focusing on children are rare. The aim of this paper is to investigate the associations between iron parameters, pro-hepcidin and soluble transferrin receptor levels in obese children. METHODS: A total of 110 children aged from 6 to 16, 50 with primary obesity and 60 healthy children and adolescents, were enrolled. Complete blood count, serum iron levels, iron binding capacity, ferritin levels, soluble transferrin receptor, and pro-hepcidin levels were studied. RESULTS: Serum iron and transferrin saturation index levels were significantly low, red cell distribution width and ferritin levels were significantly high in obese children compared to control group. No association between soluble transferrin receptor, pro-hepcidin and iron parameters was detected. A positive correlation between ferritin and pro-hepcidin levels was defined. CONCLUSIONS: Obese children and adolescents were at greater risk for iron deficiency. It should be considered in the diet recommendations.


Asunto(s)
Hepcidinas/sangre , Hierro/sangre , Obesidad Infantil/sangre , Receptores de Transferrina/sangre , Adolescente , Recuento de Células Sanguíneas , Estudios de Casos y Controles , Niño , Femenino , Ferritinas/sangre , Humanos , Deficiencias de Hierro , Masculino
5.
Am J Med Genet A ; 170A(4): 942-8, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26788866

RESUMEN

To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 ± 1.7, -1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups.


Asunto(s)
Cariotipo Anormal , Antropometría , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Fenotipo , Adulto Joven
6.
Pediatr Nephrol ; 31(3): 473-83, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26482254

RESUMEN

BACKGROUND: Hypertension (HT) is a major comorbidity of obesity that is associated with an increased risk of cardiovascular disease and higher mortality. The aim of our study was to evaluate cardiac function in obese hypertensive (OHT) and obese normotensive (ONT) pediatric patients and determine the effects of plasma nitric oxide (NOx) values on cardiac function, while demonstrating the role of plasma NOx in HT in obese pediatric patients. METHODS: The study population consisted of 62 patients (27 boys, 35 girls), aged 13-18 years and 21 age-matched healthy controls. All subjects enrolled in the study underwent echocardiography (Echo) evaluation and ambulatory blood pressure monitoring for HT. Plasma NOx and biochemical values were studied in both patient groups separately. RESULTS: Plasma NOx levels were found to be lower in the OHT group than in the ONT and control groups (p < 0.001) and to be negatively correlated with left ventricular mass index values (p < 0.05). Both the OHT and ONT groups had concentric hypertrophy of the heart. CONCLUSIONS: Plasma NOx plays an essential role in obesity-induced HT. Concentric hypertrophy of the left ventricle was found in both the OHT and ONT groups, indicating structural deformation of the heart.


Asunto(s)
Hipertensión/sangre , Hipertrofia Ventricular Izquierda/etiología , Óxido Nítrico/sangre , Obesidad Infantil/sangre , Función Ventricular Izquierda , Remodelación Ventricular , Adolescente , Biomarcadores/sangre , Monitoreo Ambulatorio de la Presión Arterial , Estudios de Casos y Controles , Ecocardiografía Doppler , Femenino , Humanos , Hipertensión/diagnóstico , Hipertensión/etiología , Hipertensión/fisiopatología , Hipertrofia Ventricular Izquierda/diagnóstico por imagen , Hipertrofia Ventricular Izquierda/fisiopatología , Masculino , Nitratos/sangre , Nitritos/sangre , Obesidad Infantil/complicaciones , Obesidad Infantil/diagnóstico , Obesidad Infantil/fisiopatología
7.
Acta Diabetol ; 61(1): 53-61, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37670030

RESUMEN

AIMS: Children with type 1 diabetes (T1D) are prone to a variety of psychiatric disorders, however, to date, no study has examined cognitive disengagement syndrome (CDS) in children with T1D. The present study aimed to evaluate the frequency of CDS symptoms in children with T1D and whether it is related to glycemic control. METHODS: This cross-sectional study included 74 children with T1D and 88 healthy (control) children, aged 8-14 years. All children were evaluated through a semi-structured psychiatric interview, the Kent-EGY test, porteus maze test, stroop test TBAG form, Barkley child attention scale, and Conners' parent rating scale-revised-short form. RESULT: Children with T1D had considerably higher rates of elevated CDS symptoms than control children (35.1% vs. 10.2%, p < 0.001). Children with T1D performed poorly on attention and cognitive tests. High levels of CDS symptomatology were strongly associated with earlier diabetes onset age, longer disease duration, a higher percentage of diabetic ketoacidosis at diagnosis, higher HbA1c levels, and higher daily insulin dosages. Also, T1D patients with elevated CDS symptoms had lower IQ and attention scores and worse cognitive function performance compared to participants with low levels of CDS symptomatology. CONCLUSIONS: Elevated CDS symptoms are significantly higher in children with T1D and are associated with poorer diabetes control. The routine psychiatric examination of children with T1D should also include a screening for CDS, particularly in patients with poor glycemic control.


Asunto(s)
Diabetes Mellitus Tipo 1 , Cetoacidosis Diabética , Hiperglucemia , Niño , Humanos , Diabetes Mellitus Tipo 1/diagnóstico , Estudios Transversales , Hiperglucemia/complicaciones , Cetoacidosis Diabética/complicaciones , Cognición
8.
J Pediatr Endocrinol Metab ; 26(7-8): 683-7, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23612639

RESUMEN

AIM: The purpose of this prospective study was to evaluate whether surgical treatment of adenotonsillar hypertrophy has an effect on growth patterns and circulating concentrations of leptin, ghrelin and neuropeptide Y, which are all significant in energy balance. MATERIALS AND METHODS: The study group consisted of 20 children who underwent tonsillectomy with or without adenoidectomy due to chronic adenotonsillar hypertrophy. The ages ranged from 4.3 to 9.2 years with normal weight. The healthy control subjects consisted of 30 age- and sex-matched children (control group) with ages between 3.2 and 8.1 years. Serum levels of leptin ghrelin and neuropeptide Y were measured in the preoperative period and at the end of the postoperative period, which was 6 months in the study group, serum levels were only measured during the first examination in the control group. RESULTS: When the study group (preoperative) is compared with the control group, it is observed that the leptin and ghrelin levels were higher in the study group and that the neuropeptide Y levels were similar (p=0.01, p=0.005, p=0.19, respectively). When the preoperative and postoperative anthropometric data were compared, it was observed that weight, height, body mass index (BMI) and BMI-standard deviation score (SDS) values increased in the 6th month postoperatively (p<0.001, p<0.001, p=0.01, p=0.03, respectively). However, the leptin, ghrelin and neuropeptide Y levels were similar (p=0.70, p=0.12, p=0.60, respectively). CONCLUSION: Following adenotonsillectomy, an increase in weight and height occurred in the children. In the postoperative period, dietary and lifestyle suggestions as well as growth monitoring might be useful.


Asunto(s)
Adenoidectomía , Estatura , Peso Corporal , Ghrelina/sangre , Leptina/sangre , Neuropéptido Y/sangre , Tonsilectomía , Índice de Masa Corporal , Niño , Preescolar , Femenino , Humanos , Masculino
9.
J Clin Res Pediatr Endocrinol ; 15(3): 293-301, 2023 08 23.
Artículo en Inglés | MEDLINE | ID: mdl-37559365

RESUMEN

Objective: The aim of this study was to evaluate the validity and reliability of the Turkish translation of the Parent Diabetes Distress Scale (PDDS). Methods: The PDDS is a 5-point Likert-type scale with 20 items. After obtaining permission from the scale developers, the study commenced. First, a systematic adaptation of the scale into the Turkish language was performed including translation, expert panel review, back translation, and pilot study. Test-retest was applied to 35 participants. After these procedures, data collection was undertaken using the adapted PDDS and a demographic data collection form. The collected data were analyzed for reliability, including stability of the scale with test-retest and internal consistency of the scale (Cronbach's α), and validity including construct validity of the scale with confirmatory factor analysis (CFA). Results: The parents of 210 teenagers, aged >11 and <18 years, who had been diagnosed with type 1 diabetes mellitus for at least one year were included. Of these parents, 71.9% (n=151) were mothers and 53.3% (n=112) of the children were girls. The Cronbach's α value was 0.906. The results of the CFA were χ2/df=4.406, p<0.001, comparative fit test 0.704, and goodness of fit tests 0.749. The mean total PDDS score was 2.2±0.7. These results indicate that scores of 1.6 points or less was evaluated as "little or no distress" 1.7-2.4 as "moderate distress," and >2.4 points as "high distress". This showed that the majority of the parents in the study experienced moderate or severe diabetes-related distress. Conclusion: The Turkish version of the PDDS fulfilled the validity and reliability tests at an acceptable level.


Asunto(s)
Diabetes Mellitus , Lenguaje , Femenino , Adolescente , Niño , Humanos , Masculino , Psicometría , Reproducibilidad de los Resultados , Proyectos Piloto , Encuestas y Cuestionarios , Padres , Diabetes Mellitus/diagnóstico
10.
J Pediatr Endocrinol Metab ; 25(5-6): 467-70, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22876540

RESUMEN

OBJECTIVE: To investigate vitamin D status in children with Hashimoto thyroiditis. SUBJECTS AND METHODS: The study group consisted of 78 children recently diagnosed as Hashimoto thyroiditis and 74 subjects as the control group. Parameters of calcium metabolism, thyroid function tests, and 25-hydroxyvitamin D [25(OH)D] levels were measured. RESULTS: Vitamin D deficiency rate was significantly higher in the Hashimoto group compared with the control subjects (73.1% vs. 17.6%, p < 0.0001). In the Hashimoto group, mean 25(OH)D levels were significantly lower compared with the control group (31.2 +/- 11.5 versus 57.9 +/- 19.7 nmol/L, p < 0.001) and was inversely correlated with the anti-thyroid peroxidase (anti-TPO) levels (r = -0.30, p = 0.007). CONCLUSION: The higher vitamin D deficiency rates besides lower vitamin D levels in the Hashimoto group together with the inverse correlation between vitamin D and anti-TPO suggest that vitamin D deficiency may have a role in the autoimmune process in Hashimoto thyroiditis in children.


Asunto(s)
Enfermedad de Hashimoto/sangre , Enfermedad de Hashimoto/epidemiología , Deficiencia de Vitamina D/sangre , Deficiencia de Vitamina D/epidemiología , Vitamina D/análogos & derivados , Adolescente , Fosfatasa Alcalina/sangre , Calcio/sangre , Niño , Femenino , Humanos , Masculino , Hormona Paratiroidea/sangre , Fósforo/sangre , Pruebas de Función de la Tiroides , Tirotropina/sangre , Tiroxina/sangre , Vitamina D/sangre
11.
J Formos Med Assoc ; 111(7): 392-6, 2012 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-22817817

RESUMEN

BACKGROUND/PURPOSE: Vulvovaginitisis the most common gynecological problem of childhood. The aim of the study was to determine and compare clinical and microbiological features of vulvovaginitis in prepubertal and adolescent girls. METHODS: In this retrospective study, the records of patients who were diagnosed with vulvovaginitis between January 2005 and December 2010 in the pediatric outpatient clinic at Fatih University Hospital were retrieved. Information regarding age, symptoms, history of antibiotic use within 1 month prior to presentation, findings on urinalysis, serum antistreptolysin-O levels, and results of urine/vaginal cultures was collected. RESULTS: The records of 112 patients were evaluated, 72 of which were prepubertal (64.2%) and 40 were pubertal (35.7%) at the time of diagnosis. Thirty-eight prepubertal patients (52.7%) had a positive result on vaginal culture, the most commonly encountered microorganism being group A beta-hemolytic streptococcus (15.2%). Culture positivity rate in the pubertal group was 47.5% (19 patients), with Candida albicans being the most frequently isolated microorganism (27.5%). CONCLUSION: The etiopathogenesis and culture results differ between prepubertal and adolescent girls with vulvovaginitis, which should be taken into consideration in the treatment approach of this disorder.


Asunto(s)
Vulvovaginitis/microbiología , Adolescente , Factores de Edad , Candidiasis Vulvovaginal/microbiología , Candidiasis Vulvovaginal/patología , Niño , Preescolar , Infecciones por Escherichia coli/microbiología , Infecciones por Escherichia coli/patología , Femenino , Infecciones por Haemophilus/microbiología , Infecciones por Haemophilus/patología , Haemophilus influenzae , Humanos , Pubertad , Estudios Retrospectivos , Infecciones Estreptocócicas/microbiología , Infecciones Estreptocócicas/patología , Vagina/microbiología , Vagina/patología , Vulva/microbiología , Vulva/patología , Vulvovaginitis/patología
12.
J Clin Res Pediatr Endocrinol ; 14(4): 469-474, 2022 12 01.
Artículo en Inglés | MEDLINE | ID: mdl-34355877

RESUMEN

The genetic cause of 46, XY disorder of sex development (DSD) still cannot be determined in about half of the cases. GATA-4 haploinsufficiency is one of the rare causes of DSD in genetic males (46, XY). Twenty-two cases with 46, XY DSD due to GATA-4 haploinsufficiency (nine missense variant, two copy number variation) have been previously reported. In these cases, the phenotype may range from a mild undervirilization to complete female external genitalia. The haploinsufficiency may be caused by a sequence variant or copy number variation (8p23 deletion). The aim of this study was to present two unrelated patients with DSD due to GATA-4 variants and to review the phenotypic and genotypic characteristics of DSD cases related to GATA-4 deficiency.


Asunto(s)
Trastorno del Desarrollo Sexual 46,XY , Factor de Transcripción GATA4 , Femenino , Humanos , Masculino , Trastorno del Desarrollo Sexual 46,XY/genética , Variaciones en el Número de Copia de ADN , Genotipo , Fenotipo , Desarrollo Sexual
13.
J Pediatr Endocrinol Metab ; 24(1-2): 81-3, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21528821

RESUMEN

AIM: To investigate the relationship between serum phosphate levels with obesity and insulin resistance in childhood. METHODS: A total of 298 children and adolescents (190 obese subjects and 108 controls) were included in the study. Serum glucose, insulin, phosphate, calcium and alkaline phosphatase levels were measured after 12 h fasting at 08:00-08:30 h. We assessed insulin sensitivity by using the HOMA-IR (homeostasis model of insulin resistance) index as a surrogate marker of insulin resistance. RESULTS: Serum levels of phosphate were significantly lower in the 6- to 12-year-old obese subjects than controls (p = 0.02, p < 0.05). At the same time, there was a moderate negative correlation between serum phosphate levels and the HOMA-IR index in the 6- to 12-year-old IR (-) obese children (r = -0.26, p = 0.02). CONCLUSIONS: Low serum phosphate levels could contribute to the development of insulin resistance in 6- to 12-year-old obese children.


Asunto(s)
Resistencia a la Insulina , Obesidad/sangre , Obesidad/metabolismo , Fosfatos/sangre , Adolescente , Edad de Inicio , Glucemia/análisis , Glucemia/metabolismo , Índice de Masa Corporal , Estudios de Casos y Controles , Niño , Femenino , Humanos , Insulina/sangre , Resistencia a la Insulina/fisiología , Masculino , Obesidad/epidemiología , Fosfatos/análisis
14.
J Pediatr Endocrinol Metab ; 24(11-12): 1043-5, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-22308862

RESUMEN

Leptin receptor gene mutations are a very rare cause of severe early-onset obesity. They are also associated with lack of pubertal development and intense hyperphagia. Presented here is a case of a 6-year-old Turkmenian girl with monogenic obesity due to a congenital deficiency of the leptin receptor. She was born from a consanguineous marriage of second cousins after 40 gestational weeks following an uncomplicated pregnancy. Her birth weight was 3500 g. However, rapid weight gain was observed after 6 months. On presentation she was 130 cm tall [> 97th percentile; standard deviation score (SDS): +2], with a weight of 90 kg (> 97th percentile; SDS: +5.3) and a body mass index (BMI) of 53.2 kg/m2 (SDS: +3.6). Results of genetic evaluation revealed the patient to be homozygous for two missense mutations in the leptin receptor gene (P316T;W646C) resulting in complete loss of leptin receptor function. Both parents were heterozygous for the same pair of missence mutations.


Asunto(s)
Acantosis Nigricans/genética , Mutación Missense/genética , Obesidad/genética , Receptores de Leptina/genética , Edad de Inicio , Niño , Consanguinidad , Femenino , Homocigoto , Humanos , Índice de Severidad de la Enfermedad , Turquía
15.
J Pediatr Endocrinol Metab ; 24(9-10): 675-8, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-22145455

RESUMEN

BACKGROUND: Magnesium, the second most abundant intracellular cation, plays a major role in regulating insulin effect and insulin mediated glucose uptake. It has been shown that serum magnesium levels were negatively correlated with HOMA-IR (homeostasis model of insulin resistance) index. AIM: To investigate the relationship between serum magnesium levels with obesity and insulin resistance in childhood. METHODS: Two hundred and three children and adolescents (117 obese children and 86 controls) were included. Obese cases were also subgrouped according to the presence or absence of insulin resistance (IR) as "IR (+) obese" and "IR (-) obese", respectively. Serum glucose, insulin and magnesium levels were measured after a 12-h fasting at 8-8.30 a.m. We assessed insulin sensitivity by using HOMA-IR index as a surrogate marker of insulin resistance. RESULTS: Serum levels of magnesium were significantly lower in the IR (+) obese group than controls (p = 0.014). At the same time, there was a positive correlation between serum magnesium levels and body mass index-standard deviation score (BMI-SDS) (r = -0.28, p = 0.03) in the IR (-) obese group. CONCLUSIONS: Low serum magnesium levels may contribute to the development of insulin resistance in obese children.


Asunto(s)
Homeostasis/fisiología , Resistencia a la Insulina/fisiología , Magnesio/sangre , Obesidad/metabolismo , Adolescente , Niño , Humanos , Obesidad/epidemiología , Prevalencia
16.
J Clin Res Pediatr Endocrinol ; 13(4): 446-451, 2021 11 25.
Artículo en Inglés | MEDLINE | ID: mdl-32840096

RESUMEN

Systemic pseudohypoaldosteronism (PHA) is a rare, salt-wasting syndrome that is caused by inactivating variants in genes encoding epithelial sodium channel subunits. Hyponatremia, hyperkalemia, metabolic acidosis, increased aldosterone and renin levels are expected findings in PHA. Clinical management is challenging due to high dose oral replacement therapy. Furthermore, patients with systemic PHA require life-long therapy. Here we report a patient with systemic PHA due to SCNN1B variant whose hyponatremia and hyperkalemia was detected at the 24th hour of life. Hyperkalemia did not improve with conventional treatments and dialysis was required. He also developed myocarditis and hypertension in follow-up. Challenges for diagnosis and treatment in this patient are discussed herein. In addition, published evidence concerning common features of patients with SCNN1B variant are reviewed.


Asunto(s)
Canales Epiteliales de Sodio/genética , Seudohipoaldosteronismo/diagnóstico , Seudohipoaldosteronismo/genética , Seudohipoaldosteronismo/terapia , Humanos , Lactante , Masculino
17.
J Pediatr Adolesc Gynecol ; 33(6): 691-696, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32916303

RESUMEN

STUDY OBJECTIVE: To investigate adolescents with polycystic ovary syndrome (PCOS) in terms of body perception, self-esteem, and comorbid psychiatric diseases by comparing them with their healthy peers. DESIGN: Cross-sectional design. SETTING: The Department of Child and Adolescent Psychiatry and the Department of Pediatric Endocrinology outpatient clinic of Cumhuriyet University in Sivas, Turkey. PARTICIPANTS: Fifty female adolescents aged 12-18 years who were diagnosed as having PCOS and 37 healthy adolescents aged 12-18 years. INTERVENTIONS AND MAIN OUTCOME MEASURES: All adolescents were evaluated by a child and adolescent psychiatrist using a semistructured interview (Schedule for Affective Disorders and Schizophrenia for School-Age Children) and asked to complete the Rosenberg Self-Esteem Scale, Children's Depression Inventory, and Body Image Scale. RESULTS: The rate of psychiatric disorders in the PCOS group was significantly higher than in the control participants (16/50 (32%) vs 5/37 (13.5%), respectively; P = .046). The most common disorder was major depressive disorder. The Rosenberg Self-Esteem Scale and Body Image Scale scores of the PCOS group were lower (P = .03; P < .001, respectively), and Children's Depression Inventory scores were higher (P = .03) than in the control group. There was no significant relationship between obesity, hirsutism, and insulin resistance with any psychiatric disorders in the PCOS group. CONCLUSION: Adolescents with PCOS had more psychopathology than their peers. Moreover, their self-esteem was lower and their body perceptions were more dissatisfied compared with their peers.


Asunto(s)
Trastorno Depresivo Mayor/psicología , Estado de Salud , Síndrome del Ovario Poliquístico/psicología , Autoimagen , Adolescente , Niño , Comorbilidad , Estudios Transversales , Trastorno Depresivo Mayor/epidemiología , Femenino , Humanos , Síndrome del Ovario Poliquístico/epidemiología , Escalas de Valoración Psiquiátrica , Turquía/epidemiología
18.
Arch Endocrinol Metab ; 64(2): 121-127, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-32236310

RESUMEN

Objective To determine whether first-voided urinary LH (FV-ULH) - level measurement can adequately assess pubertal suppression as much as standard tests can. Subjects and methods The study group included patients with central precocious puberty and rapidly progressing early puberty who received up to 3 - 4 doses of GnRHa therapy monthly and did not have adequate hormonal suppression after GnRH stimulation (90-minute LH level > 4 IU/L). Design: All of the participants underwent an LHRH test just after admission to the study. According to the stimulated peak LH levels, the patients were divided into 2 groups and followed until the end of the first year of treatment. The concordance between FV-ULH and stimulated LH levels was assessed. Results The FV-ULH levels in patients with inadequate hormonal suppression were significantly high compared to patients with adequate hormonal suppression. FV-ULH levels were very strongly correlated with stimulated LH levels (r = 0.91). Its correlation with basal LH levels was significant (r = 0.65). However, this positive correlation was modestly weakened after the first year of treatment. The cutoff value for FV-ULH of 1.01 mIU/mL had the highest sensitivity (92.3%) and specificity (100%). Conclusion FV-ULH levels, using more reliable and sensitive assay methods, can be used to monitor the adequacy of GnRHa therapy.


Asunto(s)
Hormona Liberadora de Gonadotropina/administración & dosificación , Leuprolida/administración & dosificación , Hormona Luteinizante/orina , Pubertad Precoz/diagnóstico , Pamoato de Triptorelina/administración & dosificación , Niño , Femenino , Humanos , Masculino , Estudios Prospectivos , Pubertad Precoz/tratamiento farmacológico , Pubertad Precoz/orina , Curva ROC , Sensibilidad y Especificidad , Resultado del Tratamiento
19.
Hematology ; 23(8): 542-548, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-29318945

RESUMEN

OBJECTIVES: Iron deficiency is common in obese children although the underlying mechanism is unclear. The aim of this study was to investigate the associations between iron parameters, leptin, hepcidin and adiponectin levels in obese children. METHODS: A total of 237 children, ranging in age from 5 to 18 years, 180 with primary obesity and 57 healthy children and adolescents, were enrolled. Complete blood count, serum iron levels, iron-binding capacity, ferritin levels, leptin, hepcidin and adiponectin levels were studied. RESULTS: White blood cell and platelet count, iron-binding capacity, high-sensitive C-reactive protein, leptin and hepcidin values in the obese group were higher than those of the control group (p < 0.001, p = 0.002, p < 0.001, p < 0.001, p < 0.001 and p < 0.001, respectively). However, mean corpuscular volume, adiponectin and transferrin saturation values in the obese group were lower than in the control group (p = 0.026, p = 0.003, and p < 0.001, respectively). No significant differences were found in terms of hemoglobin, serum ferritin, iron and IL-6 levels. CONCLUSIONS: Our study suggests that hepcidin levels do not contribute to the development of iron deficiency anemia in pediatric obese individuals.


Asunto(s)
Anemia Ferropénica/sangre , Hepcidinas/sangre , Hierro/sangre , Obesidad/sangre , Adolescente , Recuento de Células Sanguíneas , Proteínas Sanguíneas/metabolismo , Niño , Preescolar , Femenino , Humanos , Masculino
20.
Horm Res Paediatr ; 87(1): 7-14, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-27871080

RESUMEN

AIM: The aim of this study was to investigate the cardiovascular risk of children with premature adrenarche (PA). METHODS: A total of 75 children (44 with PA and 31 control subjects) aged 6-10 years were included in the study. Their metabolic, anthropometric, and echocardiographic parameters were recorded and compared. RESULTS: Triglyceride, DHEA-SO4, and 17-hydroxyprogesterone levels were significantly higher in the PA group (p = 0.04, p = 0.002, and p = 0.01, respectively). The echocardiographic assessments revealed that the left ventricular end-diastolic diameter (LVEDD) (p < 0.001), left ventricle (LV) and right ventricle (RV) ejection times (p = 0.031 and p = 0.035, respectively), and LV and RV Tei index measurements (p = 0.033 and p = 0.006, respectively) were significantly higher in the PA group than in the control group, whereas the E/e' ratio of the mitral lateral annulus was significantly lower in the PA group (p = 0.006). Additionally, carotid intima-media thickness and epicardial adipose tissue measurements were significantly increased in the PA group compared to the control group (p < 0.001). CONCLUSION: Early atherosclerotic changes and subclinical impairment of cardiac function were observed in children with PA. It is possible that these children are on a course for early cardiovascular disease.


Asunto(s)
Tejido Adiposo , Adrenarquia/sangre , Aterosclerosis , Grosor Intima-Media Carotídeo , Ecocardiografía , Pericardio , Volumen Sistólico , Tejido Adiposo/diagnóstico por imagen , Tejido Adiposo/metabolismo , Tejido Adiposo/fisiopatología , Aterosclerosis/sangre , Aterosclerosis/diagnóstico por imagen , Aterosclerosis/etiología , Aterosclerosis/fisiopatología , Niño , Sulfato de Deshidroepiandrosterona/sangre , Femenino , Humanos , Masculino , Pericardio/diagnóstico por imagen , Pericardio/metabolismo , Pericardio/fisiopatología , Triglicéridos/sangre
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